KEGG   DISEASE: Radio-Tartaglia 症候群
エントリ  
H02612                                                             
名称    
Radio-Tartaglia 症候群
概要    
Radio-Tartaglia syndrome (RATARS) is a syndromic neurodevelopmental disorder characterized by intellectual disability, hypotonia, behavior abnormalities, multiple congenital anomalies, and facial dysmorphisms. Truncating SPEN mutations have been reported in affected individuals. SPEN encodes a large protein that functions as a transcriptional repressor through interactions with other repressors and chromatin-remodeling complexes.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02612  Radio-Tartaglia 症候群
病因遺伝子 
SPEN [HSA:23013] [KO:K25100]
リンク   
ICD-11: LD90.Y
OMIM: 619312
文献    
  著者
Radio FC, Pang K, Ciolfi A, Levy MA, Hernandez-Garcia A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M
  タイトル
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
  雑誌
Am J Hum Genet 108:502-516 (2021)
DOI:10.1016/j.ajhg.2021.01.015
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